NM_003239.5(TGFB3):c.170dup (p.Pro57_Glu58insTer) AND Rienhoff syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002551569.10
Allele description [Variation Report for NM_003239.5(TGFB3):c.170dup (p.Pro57_Glu58insTer)]
NM_003239.5(TGFB3):c.170dup (p.Pro57_Glu58insTer)
Condition(s)
-
(GDS254[ACCN]) AND GDS[filter] (1)
GDSBrowser
-
Muscle, normal extraocular, profile
Muscle, normal extraocular, profileAccession: GDS254GDSBrowser
-
Human mRNA for transforming growth factor-beta 3 (TGF-beta 3)
Human mRNA for transforming growth factor-beta 3 (TGF-beta 3)gi|37095|emb|X14149.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024